Publication | Open Access

Mutations in the Fukutin-Related Protein Gene (FKRP) Cause a Form of Congenital Muscular Dystrophy with Secondary Laminin α2 Deficiency and Abnormal Glycosylation of α-Dystroglycan

Mendelian DisorderAbnormal GlycosylationMedicineGeneticsInherited Metabolic DiseaseGenetic DisorderMolecular BiologyPathologyDegenerative DiseaseDisease Gene IdentificationFukutin-related Protein GeneNeuromuscular PathologyCongenital Muscular Dystrophy